Pilarowski-Bjornsson Syndrome
| TEST CODE | MG09170 |
| TEST NAME | Pilarowski-Bjornsson Syndrome |
| RELATED GENE | CHD1 |
| SYNONYMOUS | CHD1 |
| OMIM | 602118 |
| HEREDITY | Autosomal Dominant |
| CLINICAL AREA | Pilarowski-Bjornsson Syndrome is an autosomal dominantly inherited disease. Mutations in the CHD1 gene have been associated with the disease. |
| METHOD | Next Generation Sequencing |
| SAMPLE TYPE | Blood with EDTA |
| QUANTITY | 3 ml |
| TAT | 40 DAYS |
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